Variant report

Variant	rs34437875
Chromosome Location	chr7:6153863-6153864
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr7:6153696-6154121	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:6153739-6153930	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6141805..6147526-chr7:6152442..6159269,12	MCF-7	breast:
2	chr7:6151627..6154487-chr7:6159088..6161082,3	K562	blood:
3	chr7:6149402..6151477-chr7:6152407..6154714,2	MCF-7	breast:
4	chr7:6151184..6155498-chr7:6158937..6162352,4	K562	blood:
5	chr7:6146593..6149096-chr7:6152905..6155783,2	K562	blood:

Variant related genes	Relation type
USP42	TF binding region
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11984027	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495860	0.83[AFR][1000 genomes]
rs2107853	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55720407	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55951843	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56148129	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56191313	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56197464	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56270961	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58988271	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59486546	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61753119	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61753120	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6965578	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058617	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73058626	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058640	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058644	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058659	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
12	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6145600-6155000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:6145600-6186000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:6145600-6186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:6146200-6155000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:6146400-6157600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:6146400-6158800	Weak transcription	Esophagus	oesophagus
7	chr7:6146400-6159400	Weak transcription	Gastric	stomach
8	chr7:6146400-6159800	Weak transcription	Pancreas	Pancrea
9	chr7:6146600-6154800	Weak transcription	Psoas Muscle	Psoas
10	chr7:6146600-6155000	Weak transcription	Colonic Mucosa	Colon
11	chr7:6146600-6155000	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:6146600-6155000	Weak transcription	Fetal Brain Male	brain
13	chr7:6146800-6155000	Weak transcription	Fetal Kidney	kidney
14	chr7:6146800-6155000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:6146800-6155000	Weak transcription	NHDF-Ad	bronchial
16	chr7:6146800-6155200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:6146800-6156400	Weak transcription	Fetal Heart	heart
18	chr7:6146800-6157000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
20	chr7:6147000-6154600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:6147000-6154800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:6147000-6155000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:6147000-6156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:6147800-6154800	Weak transcription	Liver	Liver
25	chr7:6148800-6154600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:6149000-6154800	Weak transcription	GM12878-XiMat	blood
27	chr7:6149200-6160000	Strong transcription	Fetal Stomach	stomach
28	chr7:6149400-6159800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:6149600-6159800	Strong transcription	Fetal Intestine Small	intestine
30	chr7:6149800-6159800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:6150400-6160200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:6150600-6154800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:6150600-6156400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:6150600-6156800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr7:6150600-6157400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:6150600-6157600	Strong transcription	Primary B cells from cord blood	blood
37	chr7:6150600-6159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:6150600-6159400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr7:6150600-6159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:6150600-6159800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:6150600-6160600	Strong transcription	Primary T cells from cord blood	blood
42	chr7:6150600-6160800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:6150600-6160800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:6150600-6162000	Strong transcription	Osteobl	bone
45	chr7:6150600-6162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:6150600-6163800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:6150600-6166000	Strong transcription	HepG2	liver
48	chr7:6150600-6171400	Strong transcription	Dnd41	blood
49	chr7:6150800-6154000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:6150800-6155600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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